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ProteomicsProtein signature of human skin fibroblasts indicates the suitability to serve as in vitro model for neuromuscular diseases (AAAS-Data)
The elucidation of pathomechanisms leading to the manifestation of neuromuscular diseases (NMDs) represents an important step toward the understanding of the genesis of the respective disease and might help to define starting points for (new) therapeutic intervention concepts. However, these “discov...
ORGANISM(S): Homo sapiens (Human) 
2020-11-10 | PXD019201 | Pride
Allgrove syndrome Aladin Aaas Myopodin/synaptopodin-2 Triple-a syndrome Ataxin-2 
ProteomicsProtein signature of human skin fibroblasts indicates the suitability to serve as in vitro model for neuromuscular diseases (Library Data)
The elucidation of pathomechanisms leading to the manifestation of neuromuscular diseases (NMDs) represents an important step toward the understanding of the genesis of the respective disease and might help to define starting points for (new) therapeutic intervention concepts. However, these “discov...
ORGANISM(S): Homo sapiens (Human) 
2020-11-10 | PXD019060 | Pride
Allgrove syndrome Aladin Aaas Myopodin/synaptopodin-2 Triple-a syndrome Ataxin-2 
ProteomicsMuscular and molecular pathology associated with SPATA5-deficiency in a child with EHLMRS
Mutations in the SPATA5-gene are associated with the Epilepsy, Hearing Loss and Mental Retardation Syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role in mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge on the associated muscular and ...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD026182 | Pride
Ehlmrs  spata5  mitochondrial disorder  muscle proteomics  myopathology 
ProteomicsHealthy aging of skeletal muscle: Insights from a combined morphological and multiomic study
Aging impacts on the plasticity and biochemistry of skeletal muscle. For a deeper understanding of skeletal muscle function in aging and sarcopenia, defined as age related muscle decline, the identification of molecular signatures regulating muscle function under physiological conditions is importan...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD049424 | Pride
Bioinformatics in omics Mitochondria in aging Sarcopenia Muscle proteomics Muscle transcriptomics 
ProteomicsIdentification of a homozygous SCO2 variant in two siblings strengthens the concept of this gene being causative for early-onset axonal Charcot-Marie-Tooth neuropathy
The mitochondrial resident SCO2 protein acts as a copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Recessive mutations in the synthesis of cytochrome C oxidase 2 gene SCO2 were reported in several cases with fatal infantile cardioen...
ORGANISM(S): Homo sapiens (Human) 
2024-05-22 | PXD026283 | Pride
Protein sco2 homolog Rare diseases White blood cell proteomics Axonal neuropathy 
ProteomicsGiant Axonal Neuropathy (GAN): Cross-sectional data on phenotypes, genotypes and proteomics signature from a German-Austrian-Swiss cohort
Giant Axon Neuropathy (GAN) is a progressive neurodegenerative disease characterised by involvement of peripheral and central nervous system frequently associated with frizzy hair. The phenotype is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin proteins.. Thus...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD053070 | Pride
White blood cells Gan Proteomics 
ProteomicsExome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a sev...
ORGANISM(S): Homo sapiens (Human) 
2022-02-16 | PXD023584 | Pride
Proteogenomics Pch1 Solve-rd Exome reanalysis Trip4 
ProteomicsA homozygous PPP1R21 splice variant associated with severe developmental delay, absence of speech and muscle weakness leads to activated proteasome function
PPP1R21 acts as a co-factor for protein phosphatase 1 (PP1), an important serine/threonine phosphatase known to be essential for cell division, control of glycogen metabolism, protein synthesis and muscle contractility. Bi-allelic pathogenic variants in PPP1R21 were linked to a neurodevelopmental di...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD034993 | Pride
Congenital Chkb  choline/ethanolamine kinase  muscular dystrophy Megaconial type (mdcmc)  vapb 
ProteomicsProteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
Pathogenic bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix were recently linked to the manifestation of a neuromuscular disorder with manifestation in child- or adulthood. Myopathological and neurophysiological findings ...
ORGANISM(S): Homo sapiens (Human) 
2024-05-24 | PXD040226 | Pride
Phgdh Nefm White blood cell proteomics Hnrnpdl Bet1 
ProteomicsBi-allelic variants of FILIP1 cause a congenital syndrome defined by facial dysmorphisms and a broad range of neurological manifestations
Filamin-A-interacting protein 1 (FILIP1) is a structural protein known to take on roles in neuronal and muscle function and integrity and to interact in addition to filamin-A with filamin-C. For both proteins pathogenic variants in the corresponding genes were linked to neurological symptoms and dys...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD036407 | Pride
Vacuolar myopathy Protein aggregate myopathy Flnc Flna Mfm/ myofibrillar myopathy 
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